Canonical Allele Identifier: CA2813345245

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797184A>G , CM000681.2:g.3797184A>G	GRCh38
NC_000019.9:g.3797182A>G , CM000681.1:g.3797182A>G	GRCh37
NC_000019.8:g.3748182A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395045.6:c.-58+4348T>C	ENSP00000378485.1:n.-58+4348T>C
ENST00000590821.1:n.271+4348T>C
ENST00000590849.1:c.-52+4348T>C	ENSP00000467992.1:n.-52+4348T>C
ENST00000590980.1:c.-58+4348T>C	ENSP00000467472.1:n.-58+4348T>C
ENST00000592300.1:n.273-3783T>C
ENST00000592612.1:n.251-3786T>C
NM_002378.3:c.-58+4348T>C	NP_002369.2:n.-58+4348T>C
XM_011528019.1:c.-58+4348T>C	XP_011526321.1:n.-58+4348T>C
NM_002378.4:c.-58+4348T>C	NP_002369.2:n.-58+4348T>C